×
Entrez Id:
199221
Gene Symbol:
DZIP1L
DZIP1L
0.810
GermlineCausalMutation
disease
ORPHANET
Together, these data provide what is, to our knowledge, the first conclusive evidence that ARPKD is not a homogeneous disorder and further establish DZIP1L as a second gene involved in ARPKD pathogenesis.
28530676
2017
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.
27752906
2016
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
[Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease].
27577217
2016
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.
26385851
2015
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
ARPKD is caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1 ) gene, which consists of 86 exons that are variably assembled into a number of alternatively spliced transcripts.
16133180
2005
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease.
15696446
2005
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).
16523049
2006
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
Given the limitations of antenatal ultrasound, this is only feasible by molecular genetics that became possible in 1994 when PKHD1 , the locus for ARPKD , was mapped to chromosome 6p.
15108281
2004
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
29956005
2018
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
26673778
2016
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
Here we report PKHD1 sequencing results on 78 ARPKD /CHF patients from 68 families.
19914852
2010
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
All but one of the 109 amplicons were successfully read, and we identified the two PKHD1 mutations in 11 of the ARPKD cases, one mutation in 9 patients, and no mutation in only 2 patients.
25701400
2015
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.
12874454
2003
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
Clinical and pathological features of a neonate with autosomal recessive polycystic kidney disease caused by a nonsense PKHD1 mutation.
23389334
2013
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
15805161
2005
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
We have identified PKHD1 , the gene mutated in ARPKD .
11898128
2002
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
Germline PKHD1 mutations are protective against colorectal cancer.
21274727
2011
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
15108277
2004
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome.
23582048
2013
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.
26695994
2015
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
Screening for major genomic PKHD1 rearrangements will further improve mutation analysis in ARPKD .
16199545
2005
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
A mutation was characterized in the rat and screening the 66 coding exons of the human ortholog (PKHD1 ) in 14 probands with ARPKD revealed 6 truncating and 12 missense mutations; 8 of the affected individuals were compound heterozygotes.
11919560
2002
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
19940839
2010
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
An Ashkenazi founder mutation in the PKHD1 gene.
26721323
2016
×
Entrez Id:
5314
Gene Symbol:
PKHD1
PKHD1
1.000
CausalMutation
disease
CLINVAR
Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.
20413436
2010